Genetic Test Details

Biotinidase Deficiency (BTD gene)

Test Information

Title
Biotinidase Deficiency (BTD gene)
Category
Metabolic
Sub Category
Biotinidase Deficiency
Gene/Platform/Region List
BTD
Test type
Single Gene
Samples Accepted
Blood, DNA, Cultured Cells
Indications
Diagnosis, Carrier Cascade Testing, Prenatal
Test Methodology
Sequencing
Disease/Condition
Biotinidase Deficiency, Late-Onset Multiple Carboxylase Deficiency, BTD Deficiency, infantile multiple carboxylase deficiency, juvenile multiple carboxylase deficiency, delayed-onset biotinidase deficiency, profound biotinidase deficiency, partial biotinidase deficiency

Last Updated: November 26, 2025